Two children of a family with consanguineous parents, who carried a novel genetic alteration in the EIF2AK3 gene (g.53051_53062delinsTG, Ref Seq: NG_016424.1; c.1878_1886 + 3delinsTG, Ref.Seq: NM_004836.7), showed the typical clinical scenario of Wolcott-Rallison syndrome, while one of their brothers, a half-sister and the parents of the patients were heterozygous carriers of the variant without any signs of the disorder. Here, EIF2AK3 is linked to Wolcott-Rallison syndrome.